Identification of mutations in gene BRCA1/2 in breast cancer cases from Balochistan, Pakistan

Asma Yousafzai; Muhammad Luqman; Nisar Ahmed; Muneeza Arbab; Muhammad Murad; Naheed Sajjad; Sara Naudhani; Shakeela Daud; Abdul Hameed Baloch; Khushnaseeb; Sana Zahoor; Zahid Rauf; Muhammad Mohsin Javed; Jamil Ahmad

doi:10.17582/journal.pjz/2019.51.4.sc3

Identification of mutations in gene BRCA1/2 in breast cancer cases from Balochistan, Pakistan

Asma Yousafzai^*
, Muhammad Luqman
, Nisar Ahmed
, Muneeza Arbab
, Muhammad Murad
, Naheed Sajjad
, Sara Naudhani
, Shakeela Daud
, Abdul Hameed Baloch
, Khushnaseeb
, Sana Zahoor
, Zahid Rauf
, Muhammad Mohsin Javed
, Jamil Ahmad

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

BRCA1/2 genes are highly susceptible genes for both breast and ovarian cancer and account for 15-20% of all the hereditary breast cancer cases. Present study was aimed at identifying mutation in BRCA1/2 in breast cancer patients in Balochistan. Blood samples of 100 subjects including 50 breast cancer cases and 50 normal subjects were used to determine genetic variants in BRCA1 and BRCA2. Nine variants were identified in BRCA1 and four were identified in BRCA2. In case of BRCA1, six missense substitutions (p.Asp343Tyr, p.Gly393Asp, p.Ser561Phe, p.Ser616Phe, p.Pro871Leu and p.Ser1613Gly) two frameshift (p.Ser423fs and p.Gly1770fs) and nonsense mutation (p.Glu1250X) was identified. In case of gene BRCA2, all the four variants were missense substitutions (p.Glu58Lys, p.Asp99Asn, p.Asp104Asn and p.Pro999Gln). The data reported here will be valuable addition for the future genetic screening of the breast cancer patients of Balochistan.

Original language	English
Pages (from-to)	1579-1582
Number of pages	4
Journal	Pakistan Journal of Zoology
Volume	51
Issue number	4
DOIs	https://doi.org/10.17582/journal.pjz/2019.51.4.sc3
State	Published - 2019
Externally published	Yes

Bibliographical note

Publisher Copyright:
Copyright 2019 Zoological Society of Pakistan

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Breast cancer
Gene BRCA1/2
Heterozygous
Missense mutation
Nonsense mutation

ASJC Scopus subject areas

Animal Science and Zoology

Access to Document

10.17582/journal.pjz/2019.51.4.sc3

Cite this

Yousafzai, A., Luqman, M., Ahmed, N., Arbab, M., Murad, M., Sajjad, N., Naudhani, S., Daud, S., Baloch, A. H., Khushnaseeb, Zahoor, S., Rauf, Z., Javed, M. M., & Ahmad, J. (2019). Identification of mutations in gene BRCA1/2 in breast cancer cases from Balochistan, Pakistan. Pakistan Journal of Zoology, 51(4), 1579-1582. https://doi.org/10.17582/journal.pjz/2019.51.4.sc3

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title = "Identification of mutations in gene BRCA1/2 in breast cancer cases from Balochistan, Pakistan",

abstract = "BRCA1/2 genes are highly susceptible genes for both breast and ovarian cancer and account for 15-20\% of all the hereditary breast cancer cases. Present study was aimed at identifying mutation in BRCA1/2 in breast cancer patients in Balochistan. Blood samples of 100 subjects including 50 breast cancer cases and 50 normal subjects were used to determine genetic variants in BRCA1 and BRCA2. Nine variants were identified in BRCA1 and four were identified in BRCA2. In case of BRCA1, six missense substitutions (p.Asp343Tyr, p.Gly393Asp, p.Ser561Phe, p.Ser616Phe, p.Pro871Leu and p.Ser1613Gly) two frameshift (p.Ser423fs and p.Gly1770fs) and nonsense mutation (p.Glu1250X) was identified. In case of gene BRCA2, all the four variants were missense substitutions (p.Glu58Lys, p.Asp99Asn, p.Asp104Asn and p.Pro999Gln). The data reported here will be valuable addition for the future genetic screening of the breast cancer patients of Balochistan.",

keywords = "Breast cancer, Gene BRCA1/2, Heterozygous, Missense mutation, Nonsense mutation",

author = "Asma Yousafzai and Muhammad Luqman and Nisar Ahmed and Muneeza Arbab and Muhammad Murad and Naheed Sajjad and Sara Naudhani and Shakeela Daud and Baloch, \{Abdul Hameed\} and Khushnaseeb and Sana Zahoor and Zahid Rauf and Javed, \{Muhammad Mohsin\} and Jamil Ahmad",

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doi = "10.17582/journal.pjz/2019.51.4.sc3",

language = "English",

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pages = "1579--1582",

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T1 - Identification of mutations in gene BRCA1/2 in breast cancer cases from Balochistan, Pakistan

AU - Yousafzai, Asma

AU - Luqman, Muhammad

AU - Ahmed, Nisar

AU - Arbab, Muneeza

AU - Murad, Muhammad

AU - Sajjad, Naheed

AU - Naudhani, Sara

AU - Daud, Shakeela

AU - Baloch, Abdul Hameed

AU - Khushnaseeb,

AU - Zahoor, Sana

AU - Rauf, Zahid

AU - Javed, Muhammad Mohsin

AU - Ahmad, Jamil

PY - 2019

Y1 - 2019

N2 - BRCA1/2 genes are highly susceptible genes for both breast and ovarian cancer and account for 15-20% of all the hereditary breast cancer cases. Present study was aimed at identifying mutation in BRCA1/2 in breast cancer patients in Balochistan. Blood samples of 100 subjects including 50 breast cancer cases and 50 normal subjects were used to determine genetic variants in BRCA1 and BRCA2. Nine variants were identified in BRCA1 and four were identified in BRCA2. In case of BRCA1, six missense substitutions (p.Asp343Tyr, p.Gly393Asp, p.Ser561Phe, p.Ser616Phe, p.Pro871Leu and p.Ser1613Gly) two frameshift (p.Ser423fs and p.Gly1770fs) and nonsense mutation (p.Glu1250X) was identified. In case of gene BRCA2, all the four variants were missense substitutions (p.Glu58Lys, p.Asp99Asn, p.Asp104Asn and p.Pro999Gln). The data reported here will be valuable addition for the future genetic screening of the breast cancer patients of Balochistan.

AB - BRCA1/2 genes are highly susceptible genes for both breast and ovarian cancer and account for 15-20% of all the hereditary breast cancer cases. Present study was aimed at identifying mutation in BRCA1/2 in breast cancer patients in Balochistan. Blood samples of 100 subjects including 50 breast cancer cases and 50 normal subjects were used to determine genetic variants in BRCA1 and BRCA2. Nine variants were identified in BRCA1 and four were identified in BRCA2. In case of BRCA1, six missense substitutions (p.Asp343Tyr, p.Gly393Asp, p.Ser561Phe, p.Ser616Phe, p.Pro871Leu and p.Ser1613Gly) two frameshift (p.Ser423fs and p.Gly1770fs) and nonsense mutation (p.Glu1250X) was identified. In case of gene BRCA2, all the four variants were missense substitutions (p.Glu58Lys, p.Asp99Asn, p.Asp104Asn and p.Pro999Gln). The data reported here will be valuable addition for the future genetic screening of the breast cancer patients of Balochistan.

KW - Breast cancer

KW - Gene BRCA1/2

KW - Heterozygous

KW - Missense mutation

KW - Nonsense mutation

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U2 - 10.17582/journal.pjz/2019.51.4.sc3

DO - 10.17582/journal.pjz/2019.51.4.sc3

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VL - 51

SP - 1579

EP - 1582

JO - Pakistan Journal of Zoology

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ER -

Identification of mutations in gene BRCA1/2 in breast cancer cases from Balochistan, Pakistan

Abstract

Bibliographical note

UN SDGs

Keywords

ASJC Scopus subject areas

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